No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details
1 73 A G . . . . No References Variant Details
2 122 C A . . . . No References Variant Details
3 131 T C . . . . No References Variant Details
4 150 C T . . . . No References Variant Details
5 253 C A . . . . No References Variant Details
6 263 A G . . . . No References Variant Details
7 309 - GCGCCCCGCGGGGGGGCGGCGCGCGGAGAGACGACGAA . . . . No References Variant Details
8 310 - C . . . . No References Variant Details
9 475 A C . . . . No References Variant Details
10 539 T A . . . . No References Variant Details
11 545 G C . . . . No References Variant Details
12 554 A C . . . . No References Variant Details
13 561 A C . . . . No References Variant Details
14 564 G A . . . . No References Variant Details
15 567 A C . . . . No References Variant Details
16 576 - C . . . . No References Variant Details
17 577 G C . . . . No References Variant Details
18 578 T A . . . . No References Variant Details
19 582 T A . . . . No References Variant Details
20 583 G T . . . . No References Variant Details
21 588 T G . . . . No References Variant Details
22 589 T A . . . . No References Variant Details
23 591 C A . . . . No References Variant Details
24 593 T A . . . . No References Variant Details
25 596 T A . . . . No References Variant Details
26 605 T A . . . . No References Variant Details
27 607 C A . . . . No References Variant Details
28 610 T A . . . . No References Variant Details
29 616 T A . . . . No References Variant Details
30 617 G T . . . . No References Variant Details
31 622 G T . . . . No References Variant Details
32 624 C A . . . . No References Variant Details
33 625 G A . . . . No References Variant Details
34 750 A G . . . . No References Variant Details
35 1000 T C . . . . No References Variant Details
36 1027 A G . . . . No References Variant Details
37 1045 G A . . . . No References Variant Details
38 1053 A G . . . . No References Variant Details
39 1438 A G . . . . No References Variant Details
40 1749 C A . . . . No References Variant Details
41 1760 G T . . . . No References Variant Details
42 1764 C A . . . . No References Variant Details
43 1769 C A . . . . No References Variant Details
44 1775 A T . . . . No References Variant Details
45 1776 G T . . . . No References Variant Details
46 1779 A T . . . . No References Variant Details
47 1780 T C . . . . No References Variant Details
48 1785 C A . . . . No References Variant Details
49 1789 A T . . . . No References Variant Details
50 1796 A T . . . . No References Variant Details
51 1801 A T . . . . No References Variant Details
52 1813 C G . . . . No References Variant Details
53 1817 C T . . . . No References Variant Details
54 2059 C A . . . . No References Variant Details
55 2063 G A . . . . No References Variant Details
56 2101 C A . . . . No References Variant Details
57 2186 C A . . . . No References Variant Details
58 2188 A C . . . . No References Variant Details
59 2193 T G . . . . No References Variant Details
60 2200 A C . . . . No References Variant Details
61 2204 T G . . . . No References Variant Details
62 2220 A C . . . . No References Variant Details
63 2223 A C . . . . No References Variant Details
64 2226 T G . . . . No References Variant Details
65 2706 A G . . . . No References Variant Details
66 3075 G T . . . . No References Variant Details
67 3091 G T . . . . No References Variant Details
68 3099 C A . . . . No References Variant Details
69 3110 C A . . . . No References Variant Details
70 3117 C A . . . . No References Variant Details
71 3119 C A . . . . No References Variant Details
72 3126 C A . . . . No References Variant Details
73 3127 G T . . . . No References Variant Details
74 3146 G T . . . . No References Variant Details
75 3147 G T . . . . No References Variant Details
76 3148 C A . . . . No References Variant Details
77 3323 T C MT-ND1 missense . . No References Variant Details
78 3572 T G MT-ND1 missense . . No References Variant Details
79 3578 T A MT-ND1 missense . . No References Variant Details
80 3590 T A MT-ND1 missense . . No References Variant Details
81 3593 T G MT-ND1 missense . . No References Variant Details
82 3599 T A MT-ND1 missense . . No References Variant Details
83 3603 C A MT-ND1 missense . . No References Variant Details
84 3605 T A MT-ND1 missense . . No References Variant Details
85 3611 T G MT-ND1 missense . . No References Variant Details
86 3614 T A MT-ND1 missense . . No References Variant Details
87 3616 T A MT-ND1 missense . . No References Variant Details
88 3617 T G MT-ND1 missense . . No References Variant Details
89 3620 T A MT-ND1 missense . . No References Variant Details
90 3622 C A MT-ND1 missense . . No References Variant Details
91 3625 G A MT-ND1 missense . . No References Variant Details
92 3629 C A MT-ND1 missense . . No References Variant Details
93 3631 T A MT-ND1 missense . . No References Variant Details
94 3633 T A . . . . No References Variant Details
95 3635 G A MT-ND1 missense LHON Cfrm [LP] References (18) Variant Details
96 3638 T A MT-ND1 missense . . No References Variant Details
97 3640 G A MT-ND1 missense . . No References Variant Details
98 3644 T G MT-ND1 missense . . References (2) Variant Details
99 3653 T A MT-ND1 missense . . No References Variant Details
100 3654 C A MT-ND1 missense . . No References Variant Details
101 3656 T A MT-ND1 missense . . No References Variant Details
102 3658 T A . . . . No References Variant Details
103 4620 C A MT-ND2 missense . . No References Variant Details
104 4649 C A MT-ND2 missense . . No References Variant Details
105 4766 A G . . . . No References Variant Details
106 4769 A G . . . . No References Variant Details
107 4788 G T MT-ND2 missense . . No References Variant Details
108 4807 T A MT-ND2 missense . . No References Variant Details
109 4809 T A . . . . No References Variant Details
110 5231 G A . . . . No References Variant Details
111 5396 C A MT-ND2 missense . . No References Variant Details
112 5411 A C MT-ND2 missense . . No References Variant Details
113 5417 G A . . . . No References Variant Details
114 5425 A C MT-ND2 missense . . No References Variant Details
115 5427 A G MT-ND2 missense . . No References Variant Details
116 5430 A C MT-ND2 missense . . No References Variant Details
117 5436 A C MT-ND2 missense . . No References Variant Details
118 5522 G T . . . . No References Variant Details
119 5554 C T . . . . No References Variant Details
120 5560 G T . . . . No References Variant Details
121 6956 T C . . . . No References Variant Details
122 6989 A G . . . . No References Variant Details
123 7005 C A MT-CO1 missense . . No References Variant Details
124 7028 C T . . . . No References Variant Details
125 7035 C T MT-CO1 missense . . No References Variant Details
126 7048 C A . . . . No References Variant Details
127 8255 G A MT-CO2 missense . . No References Variant Details
128 8285 C A . . . . No References Variant Details
129 8370 C A MT-ATP8 missense . . No References Variant Details
130 8383 T G . . . . No References Variant Details
131 8398 C G . . . . No References Variant Details
132 8403 T G MT-ATP8 missense . . No References Variant Details
133 8414 C G MT-ATP8 missense . . No References Variant Details
134 8420 A T MT-ATP8 missense . . No References Variant Details
135 8424 T G MT-ATP8 missense . . No References Variant Details
136 8846 C A MT-ATP6 missense . . No References Variant Details
137 8848 T G MT-ATP6 missense . . No References Variant Details
138 8851 T A . . . . No References Variant Details
139 8858 G C MT-ATP6 missense . . No References Variant Details
140 8860 A G MT-ATP6 missense . . References (124) Variant Details
141 8867 T A MT-ATP6 missense . . No References Variant Details
142 9099 - GT . . . . No References Variant Details
143 9323 C A . . . . No References Variant Details
144 10056 G C . . . . No References Variant Details
145 10511 C A MT-ND4L missense . . No References Variant Details
146 10527 C A MT-ND4L missense . . No References Variant Details
147 10542 C A MT-ND4L missense . . No References Variant Details
148 10550 A G . . . . No References Variant Details
149 10936 C G MT-ND4 missense . . No References Variant Details
150 10937 C G MT-ND4 missense . . No References Variant Details
151 10940 C G MT-ND4 missense . . No References Variant Details
152 10942 A G . . . . No References Variant Details
153 10943 A G MT-ND4 missense . . No References Variant Details
154 10946 A G MT-ND4 missense . . References (2) Variant Details
155 10950 C G MT-ND4 missense . . No References Variant Details
156 10952 - GCG . . . . No References Variant Details
157 10953 T A MT-ND4 missense . . No References Variant Details
158 10955 CTAATA - . . . . No References Variant Details
159 10959 T G . . . . No References Variant Details
160 10962 T G MT-ND4 missense . . No References Variant Details
161 10967 A C MT-ND4 missense . . No References Variant Details
162 10974 T G MT-ND4 missense . . No References Variant Details
163 11719 G A . . . . No References Variant Details
164 12333 A C . . . . No References Variant Details
165 12358 A G MT-ND5 missense . . References (34) Variant Details
166 12372 G A . . . . No References Variant Details
167 12402 C A . . . . No References Variant Details
168 12658 A T MT-ND5 missense . . No References Variant Details
169 12682 C A MT-ND5 missense . . No References Variant Details
170 12705 C T . . . . No References Variant Details
171 12771 G A . . . . No References Variant Details
172 12781 A T MT-ND5 missense . . No References Variant Details
173 13315 C A MT-ND5 missense . . No References Variant Details
174 13334 C A MT-ND5 missense . . No References Variant Details
175 13732 T G MT-ND5 missense . . No References Variant Details
176 13753 T G MT-ND5 missense . . No References Variant Details
177 13761 A G . . . . No References Variant Details
178 13762 T G MT-ND5 missense . . References (3) Variant Details
179 13768 T G MT-ND5 missense . . No References Variant Details
180 13773 A G . . . . No References Variant Details
181 13774 A T MT-ND5 missense . . No References Variant Details
182 13776 A G . . . . No References Variant Details
183 13784 C G MT-ND5 missense . . No References Variant Details
184 13787 T G MT-ND5 missense . . No References Variant Details
185 13790 A G MT-ND5 missense . . References (3) Variant Details
186 13791 C A . . . . No References Variant Details
187 13836 A C . . . . No References Variant Details
188 14754 C A MT-CYB missense . . No References Variant Details
189 14766 C T MT-CYB missense . . References (113) Variant Details
190 14772 C G MT-CYB missense . . No References Variant Details
191 14783 T C . . . . No References Variant Details
192 14923 C A . . . . No References Variant Details
193 14930 G A MT-CYB missense . . No References Variant Details
194 14957 C A . . . . No References Variant Details
195 15326 A G MT-CYB missense . . References (116) Variant Details
196 15334 C A MT-CYB missense . . No References Variant Details
197 15347 C T MT-CYB missense . . No References Variant Details
198 16165 A C . . . . No References Variant Details
199 16177 A C . . . . No References Variant Details
200 16180 AA - . . . . No References Variant Details
201 16181 A T . . . . No References Variant Details
202 16182 A G . . . . No References Variant Details
203 16183 A C . . . . No References Variant Details
204 16186 - G . . . . No References Variant Details
205 16189 T C . . . . No References Variant Details
206 16191 - CGGCGGGGGGGGGGGGCGGGGGGGGGGGGGG . . . . No References Variant Details
207 16223 C T . . . . No References Variant Details
208 16227 A G . . . . No References Variant Details
209 16257 C A . . . . No References Variant Details
210 16261 C T . . . . No References Variant Details
211 16362 T C . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details